PSEN1 Gln222Arg Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44684A>G (relative to Met1 in AF109907.1)
g.61290A>G (relative to nt1 in NG_007386.2)

Alias

Gln222Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAG to CGG

dbSNP ID

rs63750009

Details

Genomic

cDNA

Protein

Observed

c.665A>G

Predicted

g.44684A>G

p.Q222R

Region

EX7

CDS

TM-V

Phenotype

Alzheimer Disease

Frequency

1 Family

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001

Citation Details

Added: September 11, 2001

ID: 117